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Year Number of Results
1989 1
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1992 6
1993 1
1994 5
1996 2
1997 2
1998 6
1999 5
2000 6
2001 8
2002 4
2003 10
2004 9
2005 5
2006 4
2007 8
2008 11
2009 6
2010 5
2011 5
2012 6
2013 11
2014 7
2015 11
2016 8
2017 9
2018 7
2019 16
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2022 23
2023 21
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2025 8

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248 results

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Page 1
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: topaloglu r. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
Professor Ayşın Bakkaloğlu (1943-2023).
Topaloglu R, Düzova A. Topaloglu R, et al. Pediatr Nephrol. 2023 Dec;38(12):4217-4218. doi: 10.1007/s00467-023-06138-y. Epub 2023 Aug 31. Pediatr Nephrol. 2023. PMID: 37650958 No abstract available.
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.
Spaan AN, Neehus AL, Laplantine E, Staels F, Ogishi M, Seeleuthner Y, Rapaport F, Lacey KA, Van Nieuwenhove E, Chrabieh M, Hum D, Migaud M, Izmiryan A, Lorenzo L, Kochetkov T, Heesterbeek DAC, Bardoel BW, DuMont AL, Dobbs K, Chardonnet S, Heissel S, Baslan T, Zhang P, Yang R, Bogunovic D, Wunderink HF, Haas PA, Molina H, Van Buggenhout G, Lyonnet S, Notarangelo LD, Seppänen MRJ, Weil R, Seminario G, Gomez-Tello H, Wouters C, Mesdaghi M, Shahrooei M, Bossuyt X, Sag E, Topaloglu R, Ozen S, Leavis HL, van Eijk MMJ, Bezrodnik L, Blancas Galicia L, Hovnanian A, Nassif A, Bader-Meunier B, Neven B, Meyts I, Schrijvers R, Puel A, Bustamante J, Aksentijevich I, Kastner DL, Torres VJ, Humblet-Baron S, Liston A, Abel L, Boisson B, Casanova JL. Spaan AN, et al. Among authors: topaloglu r. Science. 2022 Jun 17;376(6599):eabm6380. doi: 10.1126/science.abm6380. Epub 2022 Jun 17. Science. 2022. PMID: 35587511 Free PMC article.
Extrarenal complications of cystinosis.
Topaloglu R. Topaloglu R. Pediatr Nephrol. 2024 Aug;39(8):2283-2292. doi: 10.1007/s00467-023-06225-0. Epub 2023 Dec 21. Pediatr Nephrol. 2024. PMID: 38127152 Review.
Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.
Torra R, Lipska-Zietkiewicz B, Acke F, Antignac C, Becker JU, Cornec-Le Gall E, van Eerde AM, Feltgen N, Ferrari R, Gale DP, Gear S, Gross O, Haeberle S, Heidet L, Lennon R, Massella L, Pfau K, Pizarro MDPV, Topaloglu R, Wlodkowski T, Zealey H; ERKNet, ERA Genes&Kidney and ESPN Inherited renal disorders working group. Torra R, et al. Among authors: topaloglu r. Nephrol Dial Transplant. 2025 May 30;40(6):1091-1106. doi: 10.1093/ndt/gfae265. Nephrol Dial Transplant. 2025. PMID: 39673454
Outcome of immunosuppression in children with IgA vasculitis-related nephritis.
Rohner K, Marlais M, Ahn YH, Ali A, Alsharief A, Novak AB, Brambilla M, Cakici EK, Candan C, Canpolat N, Chan EY, Decramer S, Didsbury M, Durao F, Durkan AM, Düzova A, Forbes T, Gracchi V, Güngör T, Horinouchi T, Kasap Demir B, Kobayashi Y, Koskela M, Kurt-Sukur ED, La Scola C, Langan D, Li X, Malgieri G, Mastrangelo A, Min J, Mizerska-Wasiak M, Moussaoui N, Noyan A, Nuutinen M, O'Gormon J, Okamoto T, Oni L, Oosterveld M, Pańczyk-Tomaszewska M, Parmaksiz G, Pasini A, Rianthavorn P, Roelofs J, Shen Y, Sinha R, Topaloglu R, Torres DD, Udagawa T, Wennerström M, Yap YC, Tullus K. Rohner K, et al. Among authors: topaloglu r. Nephrol Dial Transplant. 2024 Jul 31;39(8):1299-1309. doi: 10.1093/ndt/gfae009. Nephrol Dial Transplant. 2024. PMID: 38211969
Response to Dr. Spizzirri et al.
Tastemel Ozturk T, Ozaltin F, Topaloglu R. Tastemel Ozturk T, et al. Among authors: topaloglu r. Pediatr Nephrol. 2023 Jan;38(1):309-310. doi: 10.1007/s00467-022-05717-9. Epub 2022 Aug 23. Pediatr Nephrol. 2023. PMID: 35997973 No abstract available.
Nephropathic cystinosis: an international consensus document.
Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, Janssen MC, Greco M, Topaloglu R, Elenberg E, Dohil R, Trauner D, Antignac C, Cochat P, Kaskel F, Servais A, Wühl E, Niaudet P, Van't Hoff W, Gahl W, Levtchenko E. Emma F, et al. Among authors: topaloglu r. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4(Suppl 4):iv87-94. doi: 10.1093/ndt/gfu090. Nephrol Dial Transplant. 2014. PMID: 25165189 Free PMC article.
248 results